| Symbol |
Name |
|
ARX
|
aristaless related homeobox
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
EXOSC9
|
exosome component 9
|
|
FKRP
|
fukutin related protein
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAO1
|
guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
MTM1
|
myotubularin 1
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFB8
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
NEUROD2
|
neuronal differentiation 2
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PIGP
|
phosphatidylinositol glycan anchor biosynthesis, class P
|
|
PIGQ
|
phosphatidylinositol glycan anchor biosynthesis, class Q
|
|
PLEKHG2
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 2
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SIK1
|
salt-inducible kinase 1
|
|
SLC25A22
|
solute carrier family 25 (mitochondrial carrier: glutamate), member 22
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SURF1
|
surfeit 1
|
|
TIMM50
|
translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)
|
|
TRIM8
|
tripartite motif containing 8
|
|
VPS11
|
vacuolar protein sorting 11 homolog (S. cerevisiae)
|
